Canonical Allele Identifier: CA373443292
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429755A>C , CM000671.2:g.37429755A>C GRCh38
NC_000009.11:g.37429752A>C , CM000671.1:g.37429752A>C GRCh37
NC_000009.10:g.37419752A>C NCBI36
NG_008135.1:g.12046A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.517A>C MANE Select ENSP00000313432.6:p.Lys173Gln
ENST00000318158.10:c.517A>C ENSP00000313432.6:p.Lys173Gln
ENST00000377824.8:n.554A>C
ENST00000460882.5:n.544A>C
ENST00000480596.5:n.1218A>C
ENST00000491488.5:n.222A>C
ENST00000494290.1:c.88A>C ENSP00000432021.1:p.Lys30Gln
ENST00000497693.1:n.2050A>C
ENST00000607784.1:c.517A>C ENSP00000475569.1:p.Lys173Gln
NM_012203.1:c.517A>C NP_036335.1:p.Lys173Gln
XM_005251631.1:c.196A>C XP_005251688.1:p.Lys66Gln
XM_011518073.1:c.115A>C XP_011516375.1:p.Lys39Gln
XR_929374.1:n.962A>C
XM_017015320.2:c.517A>C XP_016870809.1:p.Lys173Gln
XM_017015321.2:c.517A>C XP_016870810.1:p.Lys173Gln
XM_017015323.2:c.115A>C XP_016870812.1:p.Lys39Gln
XM_024447716.1:c.790A>C XP_024303484.1:p.Lys264Gln
XM_024447717.1:c.790A>C XP_024303485.1:p.Lys264Gln
XR_002956828.1:n.805A>C
XR_002956829.1:n.805A>C
XR_002956830.1:n.576A>C
XR_002956831.1:n.251A>C
XR_002956832.1:n.936A>C
NM_012203.2:c.517A>C MANE Select NP_036335.1:p.Lys173Gln